syndromes of dd Flashcards
Syndrome
“A complex of concurrent signs and symptoms that are characteristic of a particular condition or disorder”
De novo
A new genetic mutation (not inherited)
Dysmorphic
Malformed (e.g. facial features)
Microcephaly
Small head circumference
Stereotypic Behaviour
Repetitive movements or vocalizations
Hypotonia
Weak muscle tone
what is the cause of Angelemans?
Caused by an abnormality of chromosome 15
why is Angelman’s syndrome also called the Happy Puppet?
Excessive laughter
Puppet-like gait
what are the Physical characteristics of Angelmans?
Microcephaly
Dysmorphic facial features- wide mouth, pointy chin, prominent tongue, wide-spaced teeth, large jaw, deep set eyes
Half have fair coloured hair and skin, and blue eyes
May have strabismus (lazy eye)
what are some of the Functional and Behavioral Characteristics of Angelmans
Severe to profound ID
Speech impairment
Often have seizures (80%)
Jerky movements and hand flapping
what is the cause of Cri Du Shat?
De novo chromosome 5 defect (5p minus)
what are the physical characteristics of Cri Du Shat?
Early hypotonia (low muscle tone)
Prominent epicanthic fold (fold in the corner of your eyes)
Microcephaly
Low set ears
what are the Functional and behavioral characteristics of Cri Du Shat?
Functional and Behavioural Characteristics:
Named after the high-pitch, cat-like cry
Severe motor, language, and developmental delay
Stereotypic behaviours
Hyperactive, distractible, restless
what is the cause of Phenylketonuria (PKU)?
Autosomal recessive disorder
Essential amino acid phenylalanine is not properly metabolized
High levels of phenylalanine causes brain damage
High incidence in Yemenite Jews
what are the physical characteristics of PKU?
Eczema
Fair skin, hair, and blue eyes
Characteristic odor of the urine
what are the Functional and Behavioral characteristics of Phenylketonuria (PKU)
Must follow a diet of low phenylalanine foods
No symptoms if diet started within 3 weeks of age, mild symptoms if started between 3-6 weeks, and little benefit if started after 6 months
what happens if Phenylketonuria (PKU) is untreated?
Developmental delays
Behavioural difficulties (e.g. aggression, hyperactivity, impulsiveness)
Exaggerated reflexes
Seizures
Involuntary twisting of upper extremities, stereotypic behaviour
what is the cause of Prader-Willi Syndrome?
Genetic imprinting disorder- loss of genes in chromosome 15
what are the phyiscal characteristics of Prader-Willi Syndrome?
Dysmorphic facial characteristics Fair skin and hair, blue eyes Hypotonia (weak muscle tone) Obesity Undescended testicles, small penis/testes, low testosterone Short stature, small hands and feet
what are some of the functional and behavioral characteristics of Prader Willi Syndrome?
Mild to moderate ID
Compulsive eating
Challenging behaviour: aggression, irritability, stubbornness, anxiety, self-injurious behaviour
what is the cause of Williams Syndrome ?
De novo microdeletions on chromosome 7
what are some of the physical symptoms of Williams Syndrome?
Elfin-like facial features
Low birth weight and growth delay
Renal and cardiovascular irregularities
Congenital heart defects including hypertension
Difficulties with feeding, digestion, constipation, and urination
what are some of the Functional and Behavioral Characteristics of Williams syndrome?
Developmental delays Auditory sensitivity Higher language abilities Very friendly Exceptional musical abilities Emotional and behavioural difficulties such as anxiety, ADHD, lack of social
what are some of the Genetic, X-Linked Disorders ?
Cornelia de Lange Syndrome
Hunter Syndrome
Klinefelter Syndrome
Lesch-Nyhan Syndrome
what are some of the Neuronal Migration Disorders?
Rett Syndrome
Turner Syndrome
Fragile X Syndrome
what is the cause of Klinefelter Syndrome?
De novo mutation resulting in an extra sex chromosome (XXY)
what are the Physical Characteristics of Klinefelter Syndrome ?
Abnormal male sexual development (small testes/penis, infertility, low testosterone, swelling of breast tissue) Sparse facial and body hair Woman-like storage of fat on body Long legs Hypotonia, motor skill difficulties
what are some of the Functional and Behavioral Characteristics of Klinefelter Syndrome?
Most (80%) have average intelligence
Problems with expressive language, social skills, anxiety, and self-esteem
Comorbid medical conditions such as hypothyroidism, breast cancer, osteoperosis, diabetes
what is the cause of Turner’s syndrome?
AKA Chromosome XO syndrome
Missing or abnormal X chromosome
Only affects females
what are the functional and behavioral characteristics of Turner’s Syndrome?
Intelligence typically in the normal to low range
Comorbid disabilities: ADHD, learning disability, medical conditions
what are the Physical Characteristics of Turner’s Syndrome
Low birth weight Edema- fluid retention on hands and feet Short stature Webbed neck Small jaw Prominent ears Broad chest and wide spaced nipples Elbows that are turned in Sexual immaturity/infertility Hearing loss
Rett Syndrome cause
Do novo mutation on the x chromosome
Primarily affects girls (males do not survive)
what are the physical characteristics of Rhett Syndrome?
Hypotonia
Microcephaly
Excessive saliva and drooling
Shaky, unsteady, or stiff gait; scoliosis
what are the functional characteristics of Rhett Syndrome?
Typical development for first 6-18 months, then regression in language and head growth Autistic behaviours Apraxia- impairment in motor planning Seizures Gastrointestinal complaints
what is the cause Fragile X Syndrome?
Inherited mutation in the FMR1 gene located on the X chromosome
what are the physical characteristics of Fragile X Syndrome?
Long face with prominent jaw and ears High arched palate Single crease on palm Flat feet and loose joints Hypotonia Seizures
what are the functional and behavioral characteristics of Fragile X syndrome?
Males more severely impacted than females
Cognitive impairments- mild in girls
Behavioural problems such as aggression, hyperactivity, sensitivity to touch and sound
Autistic traits such as repetitive behaviour, poor eye contact
Social anxiety and shyness
what is the cause of Tourette Syndrome ?
Combination of genetic and environmental factors
Probably related to nerves connecting the basal ganglia and frontal cortex
what are the tics associated with Tourette Syndrome?
nvoluntary movements Involuntary vocalizations Echolalia- repeating words or sentences Coprolalia- saying vulgar words Sounds such as throat clearing
what are some of the challenging behavior issues associated with Tourette’s Syndrome?
hyperactivity, OCD symptoms, self-injury, inappropriate sexual behaviour
what is a common treatment for Tourettes Syndrome?
Often treated with medication- not always effective
